{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T20:00:50Z","timestamp":1792526450997,"version":"4.5.0"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2022,6,7]]},"abstract":"<jats:sec xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence. Innate immune modulators, colchicine and anti\u2010interleukin\u20101 agents, pioneered in monogenic autoinflammatory diseases, have demonstrated remarkable efficacy in trials, suggesting that autoinflammation may contribute to IRP. This study characterizes the phenotype of patients with IRP and monogenic autoinflammatory diseases, and establishes whether autoinflammatory disease genes are associated with IRP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      We retrospectively analyzed the medical records of patients with IRP (n=136) and monogenic autoinflammatory diseases (n=1910) attending a national center (London, UK) between 2000 and 2021. We examined 4 genes (\n                      <jats:italic>MEFV, MVK, NLRP3, TNFRSF1A<\/jats:italic>\n                      ) by next\u2010generation sequencing in 128 patients with IRP and compared the frequency of rare deleterious variants to controls obtained from the Genome Aggregation Database. In this cohort of patients with IRP, corticosteroid dependence was common (39\/136, 28.7%) and was associated with chronic pain (adjusted odds ratio 2.8 [95% CI, 1.3\u20136.5],\n                      <jats:italic>P<\/jats:italic>\n                      =0.012). IRP frequently manifested with systemic inflammation (raised C\u2010reactive protein [121\/136, 89.0%] and extrapericardial effusions [68\/136, 50.0%]). Pericarditis was observed in all examined monogenic autoinflammatory diseases (0.4%\u20133.7% of cases). Rare deleterious\n                      <jats:italic>MEFV<\/jats:italic>\n                      variants were more frequent in IRP than in ancestry\u2010matched controls (allele frequency 9\/200 versus 2932\/129 200,\n                      <jats:italic>P<\/jats:italic>\n                      =0.040).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Pericarditis is a feature of interleukin\u20101 driven monogenic autoinflammatory diseases and IRP is associated with variants in\n                      <jats:italic>MEFV<\/jats:italic>\n                      , a gene involved in interleukin\u20101\u03b2 processing. We also found that corticosteroid dependence in IRP is associated with chronic noninflammatory pain. Together these data implicate autoinflammation in IRP and support reducing reliance on corticosteroids in its management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/jaha.121.024931","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T06:01:45Z","timestamp":1654495305000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":57,"title":["Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center"],"prefix":"10.1161","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9682-8683","authenticated-orcid":false,"given":"Claire J.","family":"Peet","sequence":"first","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"},{"name":"Department of Medical and Molecular Genetics King\u2019s College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3511-6789","authenticated-orcid":false,"given":"Dorota","family":"Rowczenio","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3042-3827","authenticated-orcid":false,"given":"Ebun","family":"Omoyinmi","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1237-0557","authenticated-orcid":false,"given":"Charalampia","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bella Ruth R.","family":"Mapalo","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Wood","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2432-5793","authenticated-orcid":false,"given":"Francesca","family":"Capon","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics King\u2019s College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8378-2498","authenticated-orcid":false,"given":"Helen J.","family":"Lachmann","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre Royal Free London NHS Foundation Trust &amp; Division of Medicine University, College London London United 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